title: Identification of exon 19 and 21 mutations of EGFR gene in Chinese patients with esophageal squamous cell carcinoma.
abstract: BACKGROUND
  Although epidermal growth factor receptor (EGFR) inhibitor treatment showed modest response in several clinical trials in esophageal squamous cell carcinoma (ESCC) patients, it has been reported that the frequency of EGFR mutations varied largely. The aim of this study was to investigate the existence of EGFR mutations in Chinese esophageal squamous cell carcinomas.
  
  
  METHODS
  Formalin-fixed paraffin-embedded surgically resected tumor samples were obtained from 127 randomly selected Chinese patients with ESCC. The most common EGFR mutations, including in-frame deletions in exon 19 and base substitutions in exon 21, were detected by denaturing high performance liquid chromatography (DHPLC) and direct sequencing simultaneously. K-RAS mutations in codons 12 and 13 were detected by direct sequencing.
  
  
  RESULTS
  In this study, L858R missense mutations of the EGFR gene were found in 8 out of 127 patients (6.3%) by DHPLC but no mutation was observed by direct sequencing. In addition, K-RAS mutation was detected in 2 out of 127 (1.6%) patients by direct sequencing.
  
  
  CONCLUSIONS
  The incidence of EGFR mutations was relatively high using DHPLC method but no mutation with direct sequencing in Chinese ESCC patients.
authors.affiliation: Department of Thoracic and Cardiovascular Surgery, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China. guomin616616@163.com.
authors.forename: Yong
authors.initials: Y
authors.lastname: Cui
authors.forename: Dong
authors.initials: D
authors.lastname: Chang
authors.forename: Mingliang
authors.initials: M
authors.lastname: Liu
authors.forename: Changjin
authors.initials: C
authors.lastname: Lin
authors.forename: Baojian
authors.initials: B
authors.lastname: Zhao
authors.forename: Xu
authors.initials: X
authors.lastname: Zhang
authors.forename: Min
authors.initials: M
authors.lastname: Gong
mesh_terms: D044466:Asian People / Q000235:genetics*; D002294:Carcinoma, Squamous Cell / Q000175:diagnosis / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid; D004273:DNA, Neoplasm / Q000235:genetics; D066246:ErbB Receptors / Q000235:genetics*; D004938:Esophageal Neoplasms / Q000175:diagnosis / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011379:Prognosis; D017384:Sequence Deletion
chemical_list: D004273:DNA, Neoplasm; C512478:EGFR protein, human; D066246:ErbB Receptors